Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults
Identifieur interne : 000F01 ( Istex/Corpus ); précédent : 000F00; suivant : 000F02Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults
Auteurs : K.-U. Lentes ; A. Hinney ; A. Ziegler ; K. Rosenkranz ; H. Wurmser ; N. Barth ; K. Jacob ; H. Coners ; H. Mayer ; K.-H. Grzeschik ; H. Sch Fer ; H. Remschmidt ; K. M. Pirke ; J. HebebrandSource :
- Life Sciences [ 0024-3205 ] ; 1997.
Abstract
Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.
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DOI: 10.1016/S0024-3205(97)00361-5
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Grzeschik</name><affiliation><mods:affiliation>Institute of Human Genetics, University of Marburg Germany</mods:affiliation></affiliation></author><author><name sortKey="Sch Fer, H" sort="Sch Fer, H" uniqKey="Sch Fer H" first="H." last="Sch Fer">H. Sch Fer</name><affiliation><mods:affiliation>Institute of Medical Biometry, University of Marburg Germany</mods:affiliation></affiliation></author><author><name sortKey="Remschmidt, H" sort="Remschmidt, H" uniqKey="Remschmidt H" first="H." last="Remschmidt">H. Remschmidt</name><affiliation><mods:affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</mods:affiliation></affiliation></author><author><name sortKey="Pirke, K M" sort="Pirke, K M" uniqKey="Pirke K" first="K. M." last="Pirke">K. M. 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Hebebrand</name><affiliation><mods:affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Life Sciences</title><title level="j" type="abbrev">LFS</title><idno type="ISSN">0024-3205</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997">1997</date><biblScope unit="volume">61</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="PL9">PL9</biblScope><biblScope unit="page" to="PL16">PL16</biblScope></imprint><idno type="ISSN">0024-3205</idno></series><idno type="istex">D9E6746C5EE791DA4173DE8C8E9E7B5EA3353914</idno><idno type="DOI">10.1016/S0024-3205(97)00361-5</idno><idno type="PII">S0024-3205(97)00361-5</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0024-3205</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>K.-U. Lentes</name><affiliations><json:string>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</json:string></affiliations></json:item><json:item><name>A. Hinney</name><affiliations><json:string>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>A. Ziegler</name><affiliations><json:string>Institute of Medical Biometry, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>K. Rosenkranz</name><affiliations><json:string>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>H. Wurmser</name><affiliations><json:string>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</json:string></affiliations></json:item><json:item><name>N. Barth</name><affiliations><json:string>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>K. Jacob</name><affiliations><json:string>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</json:string></affiliations></json:item><json:item><name>H. Coners</name><affiliations><json:string>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>H. Mayer</name><affiliations><json:string>Children's Hospital Hochried, Murnau Germany</json:string></affiliations></json:item><json:item><name>K.-H. Grzeschik</name><affiliations><json:string>Institute of Human Genetics, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>H. Schäfer</name><affiliations><json:string>Institute of Medical Biometry, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>H. Remschmidt</name><affiliations><json:string>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</json:string></affiliations></json:item><json:item><name>K.M. Pirke</name><affiliations><json:string>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</json:string></affiliations></json:item><json:item><name>J. Hebebrand</name><affiliations><json:string>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>serotonin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>5-HT2C receptor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>receptor mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>obesity</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>underweight</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>body weight regulation</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>Short communication</json:string></originalGenre><abstract>Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</abstract><qualityIndicators><score>5.509</score><pdfVersion>1.2</pdfVersion><pdfPageSize>468 x 720 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>1468</abstractCharCount><pdfWordCount>2965</pdfWordCount><pdfCharCount>17786</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>212</abstractWordCount></qualityIndicators><title>Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults</title><pii><json:string>S0024-3205(97)00361-5</json:string></pii><refBibs><json:item><host><volume>6</volume><pages><last>78</last><first>67</first></pages><author></author><title>Ann. Clin. Psych.</title></host></json:item><json:item><host><volume>55</volume><pages><last>159</last><first>155</first></pages><author></author><title>Am. J. Clin. Nutr.</title></host></json:item><json:item><host><volume>3</volume><pages><last>476</last><first>471</first></pages><author></author><title>Obes. Res.</title></host></json:item><json:item><host><volume>109</volume><pages><last>84</last><first>77</first></pages><author></author><title>Psychopharmacology</title></host></json:item><json:item><host><volume>268</volume><pages><last>R20</last><first>R14</first></pages><author></author><title>Am. J. Physiol.</title></host></json:item><json:item><host><volume>374</volume><pages><last>546</last><first>542</first></pages><author></author><title>Nature</title></host></json:item><json:item><host><volume>27</volume><pages><last>279</last><first>274</first></pages><author></author><title>Genomics</title></host></json:item><json:item><host><volume>1</volume><pages><last>684</last><first>681</first></pages><author></author><title>Hum. Mol. Genetics</title></host></json:item><json:item><host><author></author></host></json:item><json:item><host><volume>19</volume><pages><last>369</last><first>359</first></pages><author></author><title>Int. J. Eat. Dis.</title></host></json:item><json:item><host><volume>19</volume><pages><last>357</last><first>347</first></pages><author></author><title>Int. J. Eat. Dis.</title></host></json:item><json:item><host><volume>16</volume><pages><first>1215</first></pages><author></author><title>Nucleic Acids Research</title></host></json:item><json:item><host><volume>55</volume><pages><last>409</last><first>402</first></pages><author></author><title>Am. J. Hum. Genet.</title></host></json:item><json:item><host><volume>52</volume><pages><last>516</last><first>506</first></pages><author></author><title>Am. J. Hum. 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type="first">H.</forename><surname>Schäfer</surname></persName><affiliation>Institute of Medical Biometry, University of Marburg Germany</affiliation></author><author xml:id="author-12"><persName><forename type="first">H.</forename><surname>Remschmidt</surname></persName><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation></author><author xml:id="author-13"><persName><forename type="first">K.M.</forename><surname>Pirke</surname></persName><affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</affiliation></author><author xml:id="author-14"><persName><forename type="first">J.</forename><surname>Hebebrand</surname></persName><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation></author></analytic><monogr><title level="j">Life Sciences</title><title level="j" type="abbrev">LFS</title><idno type="pISSN">0024-3205</idno><idno type="PII">S0024-3205(00)X0117-8</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997"></date><biblScope unit="volume">61</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="PL9">PL9</biblScope><biblScope unit="page" to="PL16">PL16</biblScope></imprint></monogr><idno type="istex">D9E6746C5EE791DA4173DE8C8E9E7B5EA3353914</idno><idno type="DOI">10.1016/S0024-3205(97)00361-5</idno><idno type="PII">S0024-3205(97)00361-5</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1997</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</p></abstract><textClass><keywords scheme="keyword"><list><head>Keywords</head><item><term>serotonin</term></item><item><term>5-HT2C receptor</term></item><item><term>receptor mutation</term></item><item><term>obesity</term></item><item><term>underweight</term></item><item><term>body weight regulation</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1997-03-24">Modified</change><change when="1997">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/D9E6746C5EE791DA4173DE8C8E9E7B5EA3353914/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="sco"><item-info><jid>LFS</jid><aid>97003615</aid><ce:pii>S0024-3205(97)00361-5</ce:pii><ce:doi>10.1016/S0024-3205(97)00361-5</ce:doi><ce:copyright type="unknown" year="1997"></ce:copyright></item-info><head><ce:dochead><ce:textfn>Pharmacology letter Accelerated communication</ce:textfn></ce:dochead><ce:title>Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults</ce:title><ce:author-group><ce:author><ce:given-name>K.-U.</ce:given-name><ce:surname>Lentes</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>A.</ce:given-name><ce:surname>Hinney</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>A.</ce:given-name><ce:surname>Ziegler</ce:surname><ce:cross-ref refid="AFF3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>K.</ce:given-name><ce:surname>Rosenkranz</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>H.</ce:given-name><ce:surname>Wurmser</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>N.</ce:given-name><ce:surname>Barth</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>K.</ce:given-name><ce:surname>Jacob</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>H.</ce:given-name><ce:surname>Coners</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>H.</ce:given-name><ce:surname>Mayer</ce:surname><ce:cross-ref refid="AFF5"><ce:sup>5</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>K.-H.</ce:given-name><ce:surname>Grzeschik</ce:surname><ce:cross-ref refid="AFF4"><ce:sup>4</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>H.</ce:given-name><ce:surname>Schäfer</ce:surname><ce:cross-ref refid="AFF3"><ce:sup>3</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>H.</ce:given-name><ce:surname>Remschmidt</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>K.M.</ce:given-name><ce:surname>Pirke</ce:surname><ce:cross-ref refid="AFF1"><ce:sup>1</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>J.</ce:given-name><ce:surname>Hebebrand</ce:surname><ce:cross-ref refid="AFF2"><ce:sup>2</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="AFF1"><ce:label>1</ce:label><ce:textfn>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</ce:textfn></ce:affiliation><ce:affiliation id="AFF2"><ce:label>2</ce:label><ce:textfn>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</ce:textfn></ce:affiliation><ce:affiliation id="AFF3"><ce:label>3</ce:label><ce:textfn>Institute of Medical Biometry, University of Marburg Germany</ce:textfn></ce:affiliation><ce:affiliation id="AFF4"><ce:label>4</ce:label><ce:textfn>Institute of Human Genetics, University of Marburg Germany</ce:textfn></ce:affiliation><ce:affiliation id="AFF5"><ce:label>5</ce:label><ce:textfn>Children's Hospital Hochried, Murnau Germany</ce:textfn></ce:affiliation></ce:author-group><ce:date-received day="4" month="2" year="1997"></ce:date-received><ce:date-revised day="24" month="3" year="1997"></ce:date-revised><ce:date-accepted day="28" month="2" year="1998"></ce:date-accepted><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para>Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords><ce:section-title>Keywords</ce:section-title><ce:keyword><ce:text>serotonin</ce:text></ce:keyword><ce:keyword><ce:text>5-HT2C receptor</ce:text></ce:keyword><ce:keyword><ce:text>receptor mutation</ce:text></ce:keyword><ce:keyword><ce:text>obesity</ce:text></ce:keyword><ce:keyword><ce:text>underweight</ce:text></ce:keyword><ce:keyword><ce:text>body weight regulation</ce:text></ce:keyword></ce:keywords></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults</title></titleInfo><name type="personal"><namePart type="given">K.-U.</namePart><namePart type="family">Lentes</namePart><affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Hinney</namePart><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Ziegler</namePart><affiliation>Institute of Medical Biometry, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.</namePart><namePart type="family">Rosenkranz</namePart><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H.</namePart><namePart type="family">Wurmser</namePart><affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N.</namePart><namePart type="family">Barth</namePart><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.</namePart><namePart type="family">Jacob</namePart><affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H.</namePart><namePart type="family">Coners</namePart><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H.</namePart><namePart type="family">Mayer</namePart><affiliation>Children's Hospital Hochried, Murnau Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.-H.</namePart><namePart type="family">Grzeschik</namePart><affiliation>Institute of Human Genetics, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H.</namePart><namePart type="family">Schäfer</namePart><affiliation>Institute of Medical Biometry, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H.</namePart><namePart type="family">Remschmidt</namePart><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.M.</namePart><namePart type="family">Pirke</namePart><affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Hebebrand</namePart><affiliation>Department of Child and Adolescent Psychiatry, Clinical Research Group, University of Marburg Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief-communication" displayLabel="Short communication"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1997</dateIssued><dateModified encoding="w3cdtf">1997-03-24</dateModified><copyrightDate encoding="w3cdtf">1997</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</abstract><note type="content">Section title: Pharmacology letter Accelerated communication</note><subject><genre>Keywords</genre><topic>serotonin</topic><topic>5-HT2C receptor</topic><topic>receptor mutation</topic><topic>obesity</topic><topic>underweight</topic><topic>body weight regulation</topic></subject><relatedItem type="host"><titleInfo><title>Life Sciences</title></titleInfo><titleInfo type="abbreviated"><title>LFS</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">19970530</dateIssued></originInfo><identifier type="ISSN">0024-3205</identifier><identifier type="PII">S0024-3205(00)X0117-8</identifier><part><date>19970530</date><detail type="volume"><number>61</number><caption>vol.</caption></detail><detail type="issue"><number>1</number><caption>no.</caption></detail><extent unit="issue pages"><start>PL1</start><end>PL26</end></extent><extent unit="issue pages"><start>1</start><end>73</end></extent><extent unit="pages"><start>PL9</start><end>PL16</end></extent></part></relatedItem><identifier type="istex">D9E6746C5EE791DA4173DE8C8E9E7B5EA3353914</identifier><identifier type="DOI">10.1016/S0024-3205(97)00361-5</identifier><identifier type="PII">S0024-3205(97)00361-5</identifier><recordInfo><recordContentSource>ELSEVIER</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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